Abstracts from this meeting are available in the August issue of Cancer Genetics, volume 224-225, pages 41-71 and online here. Additionally, each abstract is fully searchable on ScienceDirect and PubMed.
45th American Cytogenomics Conference
Snowbird Resort Snowbird, UT June 10-13, 2018
Scientific program 2018
Sunday, June 10
| 2-7 PM | Conference registration | Foyer outside Ballrooms 1-3 |
| 12-4 PM | Exhibitor registration Exhibitor and poster set-up (exhibits to be open during breakfasts and breaks, Monday and Tuesday) | Ballroom 1 (exhibitors) and ballroom lobby (posters) |
| 5-7 PM | Opening reception | Ballroom 1 |
Monday, June 11
| 7:00-8:00 AM | Continental breakfast (all posters and exhibits available for viewing) | Ballroom 1 |
| 8:00-8:15 AM | Welcome and announcements Sarah South – ACC President and 2018 Conference Chair Art Brothman – 2018 Program Chair | Ballrooms 2 & 3 |
| 8:15-10:15 AM | Scientific Session: Constitutional Cytogenetics 1 | Ballrooms 2 & 3 |
| Moderators: Jennifer Laffin and Xinjie Xu | ||
| 8:15-8:30 AM | 1. Detection of mosaicism and chimerism using SNP arrays in pediatric clinical testing: 10 year experience | Laura K. Conlin, Brooke Weckselblatt, Jinbo Fan, Elaine Zackai, Matthew C. Dulik, Nancy B. Spinner, Minjie Luo |
| 8:30-8:45 AM | 2. Two patients demonstrating the rare phenomenon of rod/ring mosaicism | Natasha T. Strande, Melissa A. Hayden, Alexis F. Poss, Christie M. Turcott, Arti Pandya, Arthur S. Aylsworth, Kathleen W. Rao, Kathleen Kaiser-Rogers |
| 8:45-9:00 AM | 3. Unusual case of mosaic Robertsonian Down syndrome with three cell lines and review of history of Robertsonian translocations at Greenwood Genetic Center | Barbara DuPont, Frank Bartel, Alka Chaubey |
| 9:00-9:15 AM | 4. Non-invasive prenatal screening: understanding the underlying mechanisms for discordance | Rupa Udani, Kim Oxendine, Jennifer Laffin, Vanessa Horner |
| 9:15-10:15 AM | Invited Speaker: Mario Capecchi (introduction by Reha Toydemir) | Modeling synovial sarcoma from initiation through metastasis |
| 10:15-10:45 AM | Morning break (all posters and exhibits available for viewing) | Ballroom 1 and ballroom lobby |
| 10:45-12:30 PM | Scientific Session: Cancer Cytogenetics 1 | Ballrooms 2 & 3 |
| Moderators: Jackie Biegel and Bo Hong | ||
| 10:45-11:00 AM | 6. An algorithm to maximize detection of double/triple hit diffuse large B-cell lymphomas while reducing workload for the cytogenetic laboratory | Hana Aviv, Ivana Maxwell, Lauri Goodell, James Van Gurp |
| 11:00-11:15 AM | 7. Clinical implications of cytogenetic heterogeneities in BCR-ABL1 fusion positive adult B cell acute lymphoblastic leukemia | Xinyan Lu |
| 11:15-11:30 AM | 8. An evidence-based approach to guide IGH-based reflex testing for plasma cell neoplasms | Jodi Zockle, Brandon Chandler, Karen Delgado, Denise Quigley, Reha Toydemir, Erica Andersen |
| 11:30-11:45 AM | 9. Detection of fusion genes from complex rearrangements reported by genome-wide mate-pair sequencing (MPseq) | Sarah H Johnson |
| 11:45-12:00 PM | 10. Improved detection of karyotype abnormalities in mature B-cell neoplasms through the utilization of CpG-oligonucleoties and interleukin-2 for B-lymphocyte stimulation | Angela M Lager, Sara Morrison-Delap, Randee Blumer, Maureen Sullivan, Lisa Leverton, Eric Johnson, Vanessa L Horner |
| 12:00-12:30 PM | 11. Genome level vendor presentation (Thermo-Fisher) Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing | Kristina Cusmano-Ozog, MD, Medical Geneticist, Children’s National Medical Center |
| 12:30-1:45 PM | Lunch (box lunches to be provided to all registrants) | |
| 12:30-1:30 PM | Concurrent vendor presentations | Primrose rooms A/B |
| 12:30-12:45 PM | 54. Utilizing clinical whole genome sequencing to identify balanced translocation carriers in the parents of children with derivative chromosomes. R. Tanner Hagelstrom, Andrew Gross, Marilyn Jones, Diane Masser-Frye, Alicia Scocchia, Kristen Bluske, Alka Malhotra, Denise L. Perry, David R. Bentley, Ryan J. Taft (Illumina) | Primrose room A |
| 12:45-1:00 PM | 55. Copy number variants in clinical whole genome sequencing: deployment and interpretation for rare and undiagnosed disease. Andrew M Gross (Illumina) | Primrose room A |
| 1:00-1:30 PM | 56. Flexible Automation Workflows for Maxwell® Nucleic Acid Extraction and Downstream Sample. Luke Roenneburg (Promega) | Primrose rooms A |
| 12:30-1:00 PM | 57. Automating chromosome and FISH slide preparation and processing in the clinical cytogenetics laboratory. James E. Stanchfield, Founder and President, SciGene | Primrose room B |
| 1:45-3:35 PM | Scientific Session: Next Generation Cytogenomics | Ballrooms 2 & 3 |
| Moderators: Hussam Al-Kateb and Hutton Kearney | ||
| 1:45-2:00 PM | 16. The evolutionary conserved developmental regulome define high risk regions for long range position effects (via teleconference) | Mana M Mehrjouy, Mads Bak, Peter Jacky, Niels Tommerup |
| 2:00-2:15 PM | Brief introduction to NGS and mate pair sequencing by the moderators | |
| 2:15-2:30 PM | 12. Mate pair sequencing: unveiling underappreciated complexity and providing clarity to the previously unanswered questions of cytogenetics | Nicole Hoppman, Stephanie Smoley, Beth Pitel, Joe Blommel, Sarah Koon, Matt Webley, Elyse Mitchell, Anna Essendrup, Cinthya Zepeda Mendoza, Sarah Johnson, George Vasmatzis, Linda Baughn, Patricia Greipp, Robert Jenkins, Hutton Kearney, Rhett Ketterling, Ross Rowsey, Bill Sukov, Erik Thorland |
| 2:30-2:45 PM | 13. Clinical utility of mate pair sequencing to detect diagnostic and prognostic chromosomal rearrangements and copy number changes in patients with acute myeloid leukemia | Linda B. Baughn, Stephanie A. Smoley, Umut Aypar, Beth A. Pitel, George Vasmatzis, Sarah H. Johnson, James B. Smadbeck, Jess F. Peterson, Katherine B. Geiersbach, Daniel L. Van Dyke, Erik C. Thorland, Rhett P. Ketterling, Robert B. Jenkins, Nicole L. Hoppman, Hutton M. Kearney, Patricia T. Greipp |
| 2:45-3:00 PM | 14. Clinical mate-pair sequencing reveals complex genomic rearrangements in B-lymphoblastic leukemia/lymphoma (B-ALL) | Cinthya J Zepeda Mendoza*, Stephanie A. Smoley, Sarah H. Johnson, Linda B. Baughn, Patricia T. Greipp, George Vasmatzis, Nicole L. Hoppman, Rhett P. Ketterling *Student award recipient |
| 3:00-3:15 PM | 15. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data | Alka Chaubey, C. Alexander Valencia, Zeqiang Ma, Gerard Irzyk, Edward Szekeres Jr., Zdenek Markovic, Yang Wang, Alice Tanner, Christin Collins, Madhuri Hegde |
| 3:15-3:35 PM | Wrap-up and discussion of NGS | |
| 3:35-4:05 PM | Afternoon break (all posters and exhibits available for viewing) | Ballroom 1 and ballroom lobby |
| 4:05-5:20 PM | Scientific Session: Cancer Cytogenetics 2 | Ballrooms 2 & 3 |
| Moderators: Jennifer Sanmann and Nyla Heerema | ||
| 4:05-4:20 PM | 17. CytoGPS: A novel bioinformatics approach for high-throughput karyotype analysis | Zachary B. Abrams*, Elvin Chu, Laura Z. Rassenti, Thomas J. Kipps, Daniel L. Van Dyke, Kevin Coombes, Lynne V. Abruzzo, Philip R.O. Payne, Nyla A. Heerema, Adrian Dubuc, Paola Dal Cin *Student award recipient |
| 4:20-4:35 PM | 18. Identification of a cryptic PAX7-FOXO1 rearrangement and characterization of subsequent amplification using genomic microarray in a case of alveolar rhabdomyosarcoma | Benjamin Hilton, Bo Hong, David Scharnhorst, Maria Longhurst, Kathryn O'Brien, Suying Xu |
| 4:35-4:50 PM | 19. Targeted FISH in multiple myeloma - experiences with different plasma cell enrichment technique | Leena Gole, Constance Chua, Yvoonne Tan, Shirley Chan, Teck Guan Soh, Lip Kun Tan, Wee Joo Chng, Xiaoli Sun |
| 4:50-5:05 PM | 20. Two cases of acute myelogenous leukemia with positive FLT3- internal tandem duplication (ITD): Follow up and enrollment in clinical trials | Matthew Tedder, Alka Chaubey, Brittany Hennigan, Ravindra B Kolhe |
| 5:05-5:20 PM | 21. Clinical Utility of Comprehensive Genomic Profiling in Pediatric Acute Leukemias | Gordana Raca, Jianling Ji, Matthew Oberley, Deepa Bhojwani, Jaclyn Biegel, Matthew Hiemenz |
| 7 PM | Distinguished Cytogeneticist dinner (recipient: Dr. Stuart Schwartz) | Aerie Restaurant, 10th Floor, Snowbird Cliff Lodge |
Tuesday, June 12
| 7:00-8:00 AM | Continental breakfast (all posters and exhibits available for viewing) | Ballroom 1 and ballroom lobby |
| 8:00-10:15 AM | Scientific Session: Cancer Cytogenetics 3 | Ballrooms 2 & 3 |
| Moderators: Cate Paschal and Reha Toydemir | ||
| 8:00-8:15 AM | 22. Detection and characterization of disease-defining gene fusions in Bone and Soft Tissue Neoplasms by RNA-Seq | Yajuan Liu |
| 8:15-8:30 AM | 23. Prevalence of KANK1-NTRK3 fusion in renal metanephric adenomas that lack BRAF mutations | Aida Catic*, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan, Michael R Pins *Student award recipient |
| 8:30-8:45 AM | 24. Abbott Vysis IntelliFISH hybridization buffer evaluation on hematological specimens | Cecelia R. Miller, Jadwiga Labanowska, Carly Tiefenthaeler, Kathleen Messaro, Herbert A. Marble, Nyla A. Heerema, Lynne V. Abruzzo |
| 8:45-9:00 AM | 25. Unexpected favorable outcome in a patient with high grade B-cell lymphoma with abnormalities of MYC, BCL6 and BCL2 | Hussam Al-Kateb ,Thomas Adams, Deborah Fuchs, Patricia K Shadoan, Laurel Johnstone, Branden M Lau, Lee McGhan, Faiz Anwer |
| 9:00-9:15 AM | 26. Correlation between bone marrow morphology, conventional cytogenetics and FISH in myelodysplastic syndrome: The Legacy Health experience | Nisha Mathew, Jacob Smith, Emma Weirich, Donna Blackwell, and Yassmine Akkari |
| 9:15-10:15 AM | Invited Speaker: James Armitage (introduction by Jennifer Sanmann) | Treating patients with lymphoma as a paradigm for “personalized medicine” |
| 10:15-10:45 AM | Morning break ALL AUTHORS TO BE PRESENT AT THEIR POSTERS (all exhibits available for viewing) | Ballroom 1 and ballroom lobby |
| 10:45-12:00 PM | Scientific Session: Constitutional Cytogenetics 2 | Ballrooms 2 & 3 |
| Moderators: Ross Rowsey and Denise Quigley | ||
| 10:45-11:00 AM | 28. Dosage sensitivity curation of recurrent copy number variant regions | Erica Andersen*, Rachel Burnside*, Bradley Coe, Laura Conlin, John Herriges, Ted Higginbotham, Benjamin Hilton, Vaidehi Jobanputra, Hutton Kearney, Karen Ouyang, Prabakaran Paulraj, Erin Rooney Riggs, Ross Rowsey, Marsha Speevak, Erik Thorland, Lei Zhang, Christa Lese Martin, on behalf of the Clinical Genome Resource (ClinGen) (*Equal contribution) |
| 11:00-11:15 AM | 29. Development and validation of 15-minute FISH hybridization technology for interphase and metaphase cytogenetic samples | Ramesh Babu, Daniel L. Van Dyke, Stephen L. Papa, Ernesto Fuentes, Sarah Fuentes, Srikanthi Kopuri, Cynthia Williamson, Mingya Liu, Vaithilingam G. Dev, Jim Tepperberg, Stuart Schwartz, Peter Papenhausen, Prasad Koduru |
| 11:15-11:30 AM | 30. Dynamic mosaicism of ring chromosomes as characterized by multiple cytogenetic methods: a ring 13 and ring 21 with discordant results between microarray, karyotype, and FISH | T. Niroshi Senaratne, Sung-Hae L. Kang |
| 11:30-11:45 AM | 31. Assessing telomere length and chromosome aberrations in twin and unrelated astronauts | Susan M. Bailey, Miles J. McKenna, Lynn Taylor, Kerry A. George |
| 11:45-12:00 PM | 32. Jumping genes in frogs; cytogenetic evidence that additional ribosomal gene locations in Hyla chrysoscelis (Cope’s Gray Treefrog) are associated with mobile genetic elements | John Wiley |
| 12:00 PM | Adjourn for optional afternoon activities | |
| 6:00-10:30 PM | Buffet dinner and dancing | Summit Restaurant (plan ~15 min tram-ride to Summit Peak from Snowbird Center) |
Wednesday, June 13
| 7:30-8:30 AM | Continental breakfast (all posters and exhibits available for viewing) | Ballroom 1 and ballroom lobby |
| 8:30-10:15 AM | Scientific Session: Constitutional Cytogenetics 3 | Ballrooms 2 & 3 |
| Moderators: Ankita Patel and John Wiley | ||
| 8:30-8:45 AM | 33. SNP microarray autozygosity-directed mutation assessment of children and families with heritable retinal dystrophies in Costa Rica; identification of autosomal recessive mutations and one copy number variant | Daynna J. Wolff, Iya Znoyko, W. Bailey Glen, Joaquin Martinez Arguedas, Rames Badilla Porras, Mae Millicent Peterseim |
| 8:45-9:00 AM | 34. Meiotic recombination and chromosomal defects in hybrid beefalo and ruminant livestock spermatocytes | Brenda M. Murdoch |
| 9:00-9:15 AM | 35. Runs of homozygosity (ROH) reveal that segmental-UPD is associated with the repair of genomic imbalance | Andrea Penton, Peter Papenhausen, Stuart Schwartz, James Tepperberg |
| 9:15-9:30 AM | 36. Identification and characterization of complete and partial MEF2C gene deletions in 3 individuals with developmental delay by whole genome microarray analysis | Frank Bartel, Timothy Fee, Barbara DuPont |
| 9:30-9:45 AM | 37. Microdeletions including the RYR2 gene are not associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) in four unrelated families | Matthew Thomas, George McDaniel, Kaitlyn Amos, Eli Williams |
| 9:45-10:00 AM | 38. Clinical cytogenetics training in a genomics world - adapting to the laboratory genetics and genomics paradigm | Ruthann Pfau,Yassmine Akkari |
| 10:00-10:15 AM | 39. Lessons learned from supplementary testing in constitutional and hematologic cases | Teresa A. Smolarek, Kristen Sund, Nicki Smith, Deema Aljeaid, Priscila Badia Alonso, Brenton Francisco, Pamela Long, Jeremy Rubinstein, Robert Lorsbach, John Perentesis, Christine Phillips, K. Nicole Weaver, Lisa Dyer |
| 10:15-10:45 AM | Morning break | Ballroom 1 |
| 10:45-11:45 AM | Invited Speaker: Terry Hassold (introduction by Ross Rowsey) | Aneuploidy in humans: new insights into an age-old problem |
| 11:45-12:15 PM | ACC Business Meeting Award Recognition ACC 2020: Barbara DuPont | Ballrooms 2 & 3 |
| 12:15 PM | Adjourn |